Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 80856
Gene Symbol: LNPK
LNPK
lunapark, ER junction formation factor 0.716 0.346 6.2E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
fucose kinase 0.769 0.192 1.0E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
DEAF1 transcription factor 0.575 0.615 3.4E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 5 2 2014 2017
Entrez Id: 5476
Gene Symbol: CTSA
CTSA
cathepsin A 0.619 0.731 5.9E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 3 2 1996 2014
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 2 2 2007 2013
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 2 2 2007 2013
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
forkhead box G1 0.522 0.692 0.94
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
lysine acetyltransferase 6B 0.525 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84126
Gene Symbol: ATRIP
ATRIP
ATR interacting protein 0.666 0.692 2.0E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 18
Gene Symbol: ABAT
ABAT
4-aminobutyrate aminotransferase 0.628 0.538 6.3E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 4 2010 2010
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4191
Gene Symbol: MDH2
MDH2
malate dehydrogenase 2 0.595 0.731 6.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 3 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
solute carrier family 19 member 3 0.610 0.692 0.10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 4 2017 2017
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
sodium leak channel, non-selective 0.587 0.615 8.5E-14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
leucine zipper like transcription regulator 1 0.547 0.808 1.0E-92
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
transmembrane protein 186 1.000 0.077 5.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 1.000 1 1 2010 2010